Doenças dos aminoácidos de cadeia ramificada.
The authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Ordem dos Médicos
1998-07-01
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| Series: | Acta Médica Portuguesa |
| Online Access: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2301 |
| _version_ | 1828340990025400320 |
|---|---|
| author | A Cabral R Portela T Tasso F Eusébio I T De Almeida C Silveira |
| author_facet | A Cabral R Portela T Tasso F Eusébio I T De Almeida C Silveira |
| author_sort | A Cabral |
| collection | DOAJ |
| description | The authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and in 4 the onset occurred later. Fifteen patients (78.9%) needed one or several extra-corporal procedures either in the initial acute phase or during relapse. Fifteen patients presented several metabolic relapses, sometimes fatal (3 children). Global mortality was 26.3%, that is 5/19 patients: 4 children with neonatal forms, one with a later onset. Eleven patients (57.9%) had an IQ/DQ > or = 80: only 46.6% of the neonatal forms obtained these results, in contrast with all the late onset forms. Of the survivors, 9 (64.2%), presented a residual neurologic condition. The correct diagnostic and treatment procedures are defined and the need to consider the existence of these diseases at any age, particularly in the neonatal period, is stressed. |
| first_indexed | 2024-04-13T23:04:42Z |
| format | Article |
| id | doaj.art-0a4f16fc18ee4d61b456783e7a96c5df |
| institution | Directory Open Access Journal |
| issn | 0870-399X 1646-0758 |
| language | English |
| last_indexed | 2024-04-13T23:04:42Z |
| publishDate | 1998-07-01 |
| publisher | Ordem dos Médicos |
| record_format | Article |
| series | Acta Médica Portuguesa |
| spelling | doaj.art-0a4f16fc18ee4d61b456783e7a96c5df2022-12-22T02:25:42ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07581998-07-0111710.20344/amp.2301Doenças dos aminoácidos de cadeia ramificada.A Cabral0R PortelaT TassoF EusébioI T De AlmeidaC SilveiraUnidade de Doenças Metabólicas, Hospital de Santa Maria, Lisboa.The authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and in 4 the onset occurred later. Fifteen patients (78.9%) needed one or several extra-corporal procedures either in the initial acute phase or during relapse. Fifteen patients presented several metabolic relapses, sometimes fatal (3 children). Global mortality was 26.3%, that is 5/19 patients: 4 children with neonatal forms, one with a later onset. Eleven patients (57.9%) had an IQ/DQ > or = 80: only 46.6% of the neonatal forms obtained these results, in contrast with all the late onset forms. Of the survivors, 9 (64.2%), presented a residual neurologic condition. The correct diagnostic and treatment procedures are defined and the need to consider the existence of these diseases at any age, particularly in the neonatal period, is stressed.https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2301 |
| spellingShingle | A Cabral R Portela T Tasso F Eusébio I T De Almeida C Silveira Doenças dos aminoácidos de cadeia ramificada. Acta Médica Portuguesa |
| title | Doenças dos aminoácidos de cadeia ramificada. |
| title_full | Doenças dos aminoácidos de cadeia ramificada. |
| title_fullStr | Doenças dos aminoácidos de cadeia ramificada. |
| title_full_unstemmed | Doenças dos aminoácidos de cadeia ramificada. |
| title_short | Doenças dos aminoácidos de cadeia ramificada. |
| title_sort | doencas dos aminoacidos de cadeia ramificada |
| url | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2301 |
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